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- ... for making an enzyme that is found in almost all tissues in the body. The enzyme acts ...
- ... mutations in the CTNNB1 gene are found in almost all pilomatricomas, a type of benign skin tumor ... way, leading to the formation of a pilomatricoma.Almost all pilomatricomas are benign, but a very small ...
- ... body. The variants that cause Denys-Drash syndrome almost always occur in areas of the gene known ... variants that cause Frasier syndrome are germline and almost always occur in an area of the gene ...
- ... anemia have been identified in the ALAS2 gene. Almost all of these mutations change single protein building ... prevents these cells from making enough hemoglobin. Because almost all of the iron transported into erythroblasts is ...
- ... which is located on the X chromosome, makes almost all of the body's amelogenin. The copy ... AMELX gene have very little amelogenin and develop almost no enamel to cover and protect their teeth. ( ...
- ... tarda. This condition impairs bone growth and occurs almost exclusively in males, usually appearing between ages 6 and 10. Almost all mutations result in a nonfunctional sedlin protein. ...
- ... a rare form of kidney cancer that occurs almost exclusively in children. These mutations are somatic, meaning ... osteopathia striata with cranial sclerosis. This condition occurs almost exclusively in females because males with the disorder ...
- ... is primarily expressed in the liver. These mutations almost always lead to GSD type IIIb, which is ...
- ... 1. This rare condition is characterized by an almost total absence of adipose tissue and a very ...
- ... restlessness, irritability, and seizures, usually beginning in adulthood. Almost all of the identified mutations lead to the ...
